Last Updated 09 Jan 2023

A Research on Down Syndrome

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Down syndrome is one of the most commonly known disabilities, and occurs when an individual has either a full or partial extra 21st chromosome. Down syndrome causes delay in a person’s development, including their mental, social, and physical development. It can also often cause impulsive behavior, bad judgment, a short attention p, and hindered learning. In 1866, John Langdon Down, who was an English physician, became the first person to ever publish an intense physical description of a person with Down syndrome. Down’s publishing labeled a person with Down syndrome as a mongoloid, because their physical features resembled that of a person from Mongolia. Then in 1959, a French physician, Dr. Jerome Lejeune, discovered that an individual with Down syndrome has 47 chromosomes instead of the normal 46, and soon after it was learned that the extra chromosome was in chromosome 21. Once the extra 21st chromosome was discovered the term mongoloid became known as a derogatory term and the label Trisomy 21 became known and used.

People with Down syndrome, no matter their ethnicity, share very common physical characteristics. They are often shorter than average, have low muscle tone, which often causes excess weight, they have wide hands with short fingers, and a flat nose. One major defining characteristic of individuals with Down syndrome is their eyes. Their eyes are usually upward slanting and many individuals have Brushfield spots. Brushfield Spots are raised white spots on a person’s iris. Other physical characteristics that are common in individuals with Down syndrome, according to Zieve are: excess skin at the nape of the neck, separated joints between the bones of the skull, and a small mouth and ears. Along with identifiable physical characteristics, individuals with Down syndrome have a delay in intellectual disability. This delay can range from mild to severe. Another common delay in individuals with Down syndrome is the delay in reaction time. A study done to compare the reaction time of Down syndrome individuals with healthy individuals proved that people with Down syndrome have a delay in their reaction time. Torriani concluded from this experiment that the inconsistency of the reaction time in the individuals with Down syndrome could be related to the brain stem, which is smaller in individuals with Down syndrome. Torriani stated that, “Individuals with DS, when compared to individuals of the same age who do not have syndrome, have more difficulty in integrating the motor action to an external stimulus.” The development of people with Down syndrome is far behind that of their nondisabled peers in all aspects of development. There are three different types of Down syndrome: Nondisjunction, Mosaicism, and Translocation. Nondisjunction is the most common, accounting for 95% of all cases.

Another name for Nondisjunction is Trisomy 21. This type of Down syndrome occurs when, in either the sperm or egg, the pair of 21st chromosomes does not separate, and then the chromosomes is duplicated in every cell. Mosaicism accounts for only 1% of all cases. It appears when Nondisjunction occurs in only one of the initial cell divisions. Therefore some of the individual’s cells will contain the normal amount of 46 chromosomes, while others will contain the abnormal 47. The third type of Down syndrome is Translocation, which is seen in 4% of all cases, where during cell division, part of chromosome 21 break off and attaches to another chromosome. Although in a person with Translocation Down syndrome there are only 46 chromosomes present, since there is a part of an extra 21st chromosome present the characteristics of Down syndrome present themselves. Translocation is the only of the three forms of Down syndrome that is hereditary, although all three types are genetic. Down syndrome can be linked to either the mother’s or the father’s genes, although only 5% of all cases have actually been connected to the father. All three types of Down syndrome, while genetically different, effect the individual similarly. Down syndrome is usually determined at birth, although pregnant women can opt to have screening and diagnostic test. According to Berns if Down syndrome is identified at birth doctors look for certain physical characteristics including: “low muscle tone, a single crease across the palm of the hand, a slightly flattered facial profile, and an upward slant to the eyes.” After the doctor makes the initial diagnosis based on the infant’s physical appearance a karyotype, or visual display of the chromosomes must be done to confirm the diagnosis.

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During pregnancy a expecting mother can choose to have a screening test done. A screening test will determine the risk of the child to have Down syndrome. The common screening test are “The Triple Screen” and sonograms. Screening test cannot confirm the diagnosis of Down syndrome but will tell the mother how likely it is that their child will have Down syndrome. Another type of test an expecting mother can get is called a diagnostic test. Diagnostic test are able to correctly determine whether or not an unborn baby will have Down syndrome. Whether before birth or soon after Down syndrome is diagnosed extremely early on in a person’s life. According to the National Down Syndrome Society, “Down syndrome is the most common genetic condition”. There are an estimated 400,000 Americans that are officially diagnosed with Down syndrome, and in the United States an estimated one in every 691 babies are born with Down syndrome each year. It is more common for women over the age of 35 to deliver a baby with Down syndrome. They have approximately a one in 350 chance of delivering a baby with this genetic condition. The older a woman is when she conceives, the higher her chance of her child having Down syndrome gets, and by 45 years of age a woman has a one in 30 chance of delivering a baby with Down syndrome. Along with that, if a woman has previously given birth to a child with Down syndrome, the chance of her next child having the same disorder rises to about one in 100. Down syndrome is recognized as the most common disorder dealing with genes and chromosomes, and it effects many people all around the world. Individuals with Down syndrome often have many medical conditions that cause limitations in their life. Many babies with Down syndrome are also born with moderate to severe heart defects, and are forced to have open-heart surgery soon after birth.

According to the National Dissemination Center for Children with Disabilities, other medical conditions that are common in people with Down syndrome, are eye problems like cataracts, extreme vomiting, hearing problems, hip problems, long-term constipation, sleep apnea, or an underactive thyroid. Along with many of these medical problems that may accompany Down syndrome, individuals with this diagnosis have poor immune systems. This can often lead to infections that cause respiratory problems. Due to the low muscle tone, and poor coordination people with Down syndrome have great difficulties keeping up with their peers athletically. There is also a condition called Atlantoxial Instability, which is a misalignment of the top two vertebrae. This condition makes it dangerous for people to participate in activities where they move their neck abnormally, because it makes them more likely to get a neck injury. Due to many of these medical conditions that accompany Down syndrome, individuals with this disorder are limited in the areas of physical activity and athletics. In a professional journal titles, “Are Hormonal Responses to Exercise in Young Men with Down Syndrome Related to Reduced Endurance Performance,” a group of young men with Down syndrome and a group of young men without Down syndrome were both put through the same physical activities to see how the different groups of men were affected. The conclusion of the experiment stated that, “In DS individuals several concomitant factors strengthen the idea of a possible exercise limitation induced by large amounts of fat mass; increased resting lepton and insulin…”. Most people with Down syndrome can participate in the majority of activities their nondisabled peers participate in. Although due to specific health conditions that many come with Down syndrome, some individuals can be limited physically. Along with some physical limitations, people with Down syndrome also have mental limitations.

Their mental development is delayed, putting their mental level behind that of their fellow peers. They are limited on what they can learn and how fast they can learn. Although people with Down syndrome do have some limitations they can learn to lead happy, independent lives. Currently there are no known cures for Down syndrome. Individuals with the disability can opt to go to different therapist, and get help to make living easier, but there is no way to get rid of Down syndrome completely. The first treatment an infant with Down syndrome may receive is surgery to fix a heart defect. Many infants are born with serious heart defects, therefore soon after birth an infant may endure surgery to fix the defect. In the medical encyclopedia, MedlinePlus, it is indicted that an Echocardiogram will be done soon after the birth of an infant with Down syndrome to test for heart defects. Throughout their lifetime individuals with Down syndrome can receive treatment from many health professionals. Some of the professionals they might visit are special educators, speech therapists, occupational therapists, or physical therapists. A physical therapist might be seen to help the child or individual improve motor skills and muscle tone. A speech and language therapist could be seen in order to work on a child’s communication skills, or to help them better understand how to use language. A child with Down syndrome could also need help learning how to correctly pronounce words. Occupational therapist would be used to help the individual learn how to complete simple everyday tasks. These tasks would make living easier for the person with Down syndrome and their caregiver. Often these individuals learn self are skills, or get help preparing for their future.

Another therapist a person with Down syndrome might visit is an emotional and behavioral therapist to help the individual find ways to cope and work with their different types of behavior. An emotional and behavioral therapist would help the person, and often times the person’s family, understand why the individual with Down syndrome acts the way they do, and help create positivity in their life. In addition to different types of therapies, under The Individuals with Disabilities Education Act (IDEA) every student with a disability (Down syndrome included) is required to receive a free education and be provided with any assistive devices they may need. Under IDEA, along with receiving a free education, students with Down syndrome will also have an IEP or Individualized Educational Plan. A group of people including: the student, any teachers, parents, health care professionals, and anyone the parents wish to invite would work out a plan for the student’s education. This would include what the child is expected to complete, how the child is to be taught, and any assistive devices the child may need to better his or her learning. Another form a treatment for kids with Down syndrome is called intervention. Intervention is allowing the child with Down syndrome assistive devices that make learning easier. it is often started very young, and continued though the public education system. Currently there is much research being done in order to improve the lives of individuals with Down syndrome. Although it is suspected to take many more years to complete it is believed that in the future there will be more intervention to aid individuals with Down syndrome and make improve their quality of life. Although there is no cure for Down syndrome, there are many steps families can take in order to help treat the disorder and make the individuals living conditions easier. A study was done to test whether or not prenatal treatment would lessen a learning deficit in Down syndrome. Incerti, did a test on mice to see if prenatal treatment would improve learning in individuals with Down syndrome. “In all, 33 control animals from 9 litters, receiving placebo, 30 control animals from 8 litters receiving peptides, 11 DS animals from 4 litters receiving placebo and 10 DS animals form 6 litters receiving prenatal peptides were tested”. In the end it was discovered that the Down syndrome animals that received peptides learned significantly better than the Down syndrome mice who received the placebo. The results from this test prove that it may be possible for prenatal intervention to diminish the learning deficits in individuals with Down syndrome. Although not yet tested in humans, this experiment gives hope of the possibility to prevent Down syndrome individuals from having a learning deficit.

The prognosis for individuals with Down syndrome has improved greatly overtime. According to Zieve, “Persons with Down syndrome are living longer than ever before. Although many children have physical and mental limitations, they can live independent and productive lives well into adult hood.” With hard work and determination an individual with Down syndrome will be able to live a long and happy, although there are some medical problems that may present themselves. Children that have Down syndrome and that are also born with heart problems may often experience untimely death. People with Down syndrome have an increased risk for certain types of leukemia, which can also lead them to a premature death. Between 20 to 25% of all adults between the ages of 50 to 60 years old develop Alzheimer disease. Since both Down syndrome and Alzheimer disease deal with the 21st chromosome the study of Alzheimer disease is affecting the research of Down syndrome. According to Swierzewski, “In 1910, the life expectancy of a child born with the condition was 9 years. Today, because of improved medical technology and early intervention, 80% of people with Down syndrome live to age 55 and many live even longer.” Quality of life has improved greatly over time for people with Down syndrome. Children with Down syndrome are able to learn how to read and write, and are sometimes placed in mainstream classes for specific subjects. Children with this disability are also accepted and able to participate in activities with their fellow peers. When a person with Down syndrome reaches adulthood they have many living options. Many individuals will stay with family members or loved ones, for support and aid. There are also group homes that people with Down syndrome can live in.

Many adults with Down syndrome are also able to work. “They may work in offices, nursing homes, hotels, restaurants, and other places of employment”. People with Down syndrome are able to grow into adulthood, get married and even have children. Although pregnant women with Down syndrome have a higher risk for having a miscarriage. People with Down syndrome are living longer and successful lives. There are many accommodations in schools for students with Down syndrome. Under the IDEA all students with disabilities are required to receive any assistance they need for their education. According to IDEA each child is entitled to any assistive devices they many need until they either graduate from high school or turn 21. Some accommodations that students may require are hearing aids, special pencils, or many other assistive devices. Often times children with Down syndrome have a delay in speech and language development. There is often a delay in memory and processing, and occasionally Down syndrome individuals have hearing impairment. There was a study done on the effects of sign language intervention on language of individuals with Down syndrome. Wright said that, “Strengths in gesture use for communication may indicate that using sign language in combination with spoken language may be an effective mode of communication.” An experiment took place where four individuals with Down syndrome were taught to use expressive signs along with spoken language. In all four cases the use of sings with spoken words increased the child’s use of words. Accommodations can come in all forms for people with Down syndrome from assistive devices to the new discovery of sign language to help with communication. Matt Balsmann is a sixteen year old boy with Down syndrome, who loves to dance. Matt’s case of Down syndrome is moderate. He can communicate with others, and he can follow directions. Matt’s muscle tone is really low and he is very poor coordination.

Matt loves life and loves to dance more than anything. Matt’s condition effects him very little. Matt does not know he is different than anyone else. He only knows his life with Down syndrome, and he wouldn’t change it if he could. He is always happy, and he doesn’t seem to notice that he is not at the same ability level as his fellow classmates in dance. Matt goes out with all his heart and does what he loves. He is not embarrassed or hesitant; he only worries about having fun. His family consists of his mom, dad, two older sisters, and an older brother. Matt’s mom and dad would do anything for Matt. They would go out of their way in any case for Matt. His sisters and brothers support Matt in everything that he does making sure he is always happy. Matt’s family has only embraced his disability instead of making it an issue in their life. Although Matt’s condition has caused some difficulties for his family, they are always supportive. Matt’s disorder did change the dynamic of his family, but his family accepted the way Matt is and they love him so much more for it. My whole life I have been extremely interested in special needs. I want to teach special education, and I am always interested in learning more about different special needs. I chose the topic of Down syndrome for my research paper because I know many people with Down syndrome and they have all affected my life greatly. I have always been interested in people with Down syndrome; the disorder has always fascinated me. The fact that no matter what ethnicity or where they are from, people with Down syndrome all have similar physical characteristics, is really interesting to me. Although I felt I knew a lot about Down syndrome going into this project, I found out that there was a lot I did not know. I learned about the different types of Down syndrome and I also found out a lot about the prognosis for people with Down syndrome. All in all I learned a lot doing this research paper.

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